Literature DB >> 12376930

Primary microcephaly: new approaches for an old disorder.

William B Dobyns1.   

Abstract

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Year:  2002        PMID： 12376930     DOI： 10.1002/ajmg.10580

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  12 in total

1.  Rac1 deficiency in the forebrain results in neural progenitor reduction and microcephaly.

Authors:  Lei Chen; Jaime Melendez; Kenneth Campbell; Chia-Yi Kuan; Yi Zheng
Journal:  Dev Biol       Date:  2008-10-31       Impact factor: 3.582

2.  Brain shape in human microcephalics and Homo floresiensis.

Authors:  Dean Falk; Charles Hildebolt; Kirk Smith; M J Morwood; Thomas Sutikna; E Wayhu Saptomo; Herwig Imhof; Horst Seidler; Fred Prior
Journal:  Proc Natl Acad Sci U S A       Date:  2007-02-02       Impact factor: 11.205

3.  The microcephaly-capillary malformation syndrome.

Authors:  Ghayda M Mirzaa; Alex R Paciorkowski; Christopher D Smyser; Marcia C Willing; Anne C Lind; William B Dobyns
Journal:  Am J Med Genet A       Date:  2011-08-03       Impact factor: 2.802

4.  Lissencephaly: Expanded imaging and clinical classification.

Authors:  Nataliya Di Donato; Sara Chiari; Ghayda M Mirzaa; Kimberly Aldinger; Elena Parrini; Carissa Olds; A James Barkovich; Renzo Guerrini; William B Dobyns
Journal:  Am J Med Genet A       Date:  2017-04-25       Impact factor: 2.802

Review 5.  Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Authors:  C Geoffrey Woods; Jacquelyn Bond; Wolfgang Enard
Journal:  Am J Hum Genet       Date:  2005-03-31       Impact factor: 11.025

Review 6.  Genetic correlates of the evolving primate brain.

Authors:  Eric J Vallender
Journal:  Prog Brain Res       Date:  2012       Impact factor: 2.453

7.  Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Authors:  Marc Trimborn; Sandra M Bell; Clive Felix; Yasmin Rashid; Hussain Jafri; Paul D Griffiths; Luitgard M Neumann; Alice Krebs; André Reis; Karl Sperling; Heidemarie Neitzel; Andrew P Jackson
Journal:  Am J Hum Genet       Date:  2004-06-15       Impact factor: 11.025

Review 8.  Genetic basis of human brain evolution.

Authors:  Eric J Vallender; Nitzan Mekel-Bobrov; Bruce T Lahn
Journal:  Trends Neurosci       Date:  2008-10-08       Impact factor: 13.837

Review 9.  Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders.

Authors:  Gustavo Malinger; Dorit Lev; Tally Lerman-Sagie
Journal:  Reprod Biol Endocrinol       Date:  2003-11-14       Impact factor: 5.211

10.  Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.

Authors:  R A Kumar; S Leach; R Bonaguro; J Chen; D W Yokom; B S Abrahams; L Seaver; C E Schwartz; W Dobyns; A Brooks-Wilson; E M Simpson
Journal:  Genes Brain Behav       Date:  2006-11-29       Impact factor: 3.449
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